title: Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: screening reveals low frequency in Icelandic breast cancer patients.
authors.affiliation: Department of Pathology, University Hospital of Iceland, Reykjavik.
authors.forename: J T
authors.initials: JT
authors.lastname: Bergthorsson
authors.forename: A
authors.initials: A
authors.lastname: Jonasdottir
authors.forename: G
authors.initials: G
authors.lastname: Johannesdottir
authors.forename: A
authors.initials: A
authors.lastname: Arason
authors.forename: V
authors.initials: V
authors.lastname: Egilsson
authors.forename: S
authors.initials: S
authors.lastname: Gayther
authors.forename: A
authors.initials: A
authors.lastname: Borg
authors.forename: S
authors.initials: S
authors.lastname: Hakanson
authors.forename: S
authors.initials: S
authors.lastname: Ingvarsson
authors.forename: R B
authors.initials: RB
authors.lastname: Barkardottir
mesh_terms: D000483:Alleles; D017398:Alternative Splicing / Q000235:genetics*; D019313:BRCA1 Protein / Q000235:genetics*; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D007055:Iceland; D007438:Introns; D009154:Mutation; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D019313:BRCA1 Protein; D004247:DNA